[EN] Charcot-Marie-Tooth disease is characterized by broad genetic heterogeneity with >50 known disease-associated genes. Mutations in some of these genes can cause a pure motor form of hereditary motor neuropathy, the ...
[EN] Mutations in MORC2 lead to an axonal form of Charcot-Marie-Tooth (CMT) neuropathy type 2Z. To date, 31 families have been described with mutations in MORC2, indicating that this gene is frequently involved in axonal ...
Lupo,Vincenzo; Frasquet, Marina; Sánchez-Monteagudo, Ana; Pelayo-Negro, Ana; García-Sobrino, Tania; Sedano, María José; Pardo, Julio; Misiego, Mercedes; García-García, Jorge; Sobrido, María Jesús; Martínez-Rubio, Dolores; Chumillas, María José; Vilchez, Juan J.; Vázquez-Costa, Juan Francisco; Espinós-Armero, Carmen Ángeles; Sevilla, Teresa(BMJ, 2018-12)
[EN] Background Mutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other ...
[EN] Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), ...
Lupo,Vincenzo; Galindo, Máximo Ibo; Martínez-Rubio, Dolores; Sevilla, Teresa; Vílchez, Juan José; Palau, Francesc; Espinós-Armero, Carmen Ángeles(Oxford University Press, 2009-12-01)
[EN]
Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis. Here we demonstrate that the SH3TC2 protein is present ...
Sevilla, Teresa; Lupo, Vincenzo; Martínez-Rubio, Dolores; Sancho, Paula; Sivera, Rafael; Chumillas, María J.; García-Romero, Mar; Pascual-Pascual, Samuel I.; Muelas, Nuria; Dopazo, Joaquín; Vílchez, Juan J.; Palau, Francesc; Espinós-Armero, Carmen Ángeles(Oxford University Press, 2016-01-01)
[EN] Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger ...
Sivera, Rafael; Espinós-Armero, Carmen Ángeles; Vílchez, Juan J.; Mas, Fernando; Martínez-Rubio, Dolores; Chumillas, María José; Mayordomo, Fernando; Muelas, Nuria; Bataller, Luis; Palau, Francesc; Sevilla, Teresa(Blackwell Publishing, 2010-12)
[EN] Mutations in the ganglioside-induced-differentiation-associated protein 1 gene (GDAP1) can cause Charcot-Marie-Tooth (CMT) disease with demyelinating (CMT4A) or axonal forms (CMT2K and ARCMT2K). Most of these mutations ...
Claramunt, R.; Sevilla, Teresa; Lupo,Vincenzo; Cuesta, A.; Millán, J.M.; Vilchez, Juan J.; Palau, F.; Espinós-Armero, Carmen Ángeles(Blackwell Publishing, 2007-04)
[EN] Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited ...
[EN] Background and purpose Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness ...
Sevilla, Teresa; Jaijo, Teresa; Nauffal, Dolores; Collado, Diego; Chumillas, María José; Vilchez, Juan J.; Muelas, Nuria; Bataller, Luis; Domènech, Rosalia; Espinós-Armero, Carmen Ángeles; Palau, Francesc(Oxford University Press, 2008-11)
[EN]
Cranial nerve involvement in Charcot-Marie-Tooth disease (CMT) is rare, though there are a number of CMT syndromes in which vocal cord paralysis is a characteristic feature. CMT disease due to mutations in the ...